Y79的比较基因组杂交分析和荧光原位杂交定位表明，扩增的人类线粒体ATP合酶α亚基基因（ATP5A）定位于18号染色体12q至21q区域。

Comparative genomic hybridization analysis of Y79 and FISH mapping indicate the amplified human mitochondrial ATP synthase alpha-subunit gene (ATP5A) maps to chromosome 18q12-->q21.

作者信息

Godbout R, Pandita A, Beatty B, Bie W, Squire J A

机构信息

Department of Oncology, Cross Cancer Institute, University of Alberta, Edmonton, Canada.

出版信息

Cytogenet Cell Genet. 1997;77(3-4):253-6. doi: 10.1159/000134588.

DOI:10.1159/000134588

PMID:9284928

Abstract

The four mitochondrial ATP synthase alpha-subunit (ATP5A) genes map to chromosomes 2, 9, 16, and 18. In this study we have refined the localization of two of these genes by fluorescence in situ hybridization (FISH) to metaphase spreads, and further characterised the involvement of ATP5A in the amplification process in the retinoblastoma cell line Y79. Comparative genomic hybridization (CGH) analysis of Y79 indicated that gene amplification was present on both the short arm of chromosome 2 and the long arm of chromosome 18. FISH indicated that the functional ATP5A gene mapped to 18q12-->q21, the same band location identified by CGH analysis of Y79. An ATP5A pseudogene (ATP5AP1) maps to 9p12. Gains in chromosomal material at 18q12-->q21 likely involve hybridization to amplified copies of the ATP5A gene while gains at 2p24 represent hybridization to the MYCN and DDX1 genes, also amplified in Y79.

摘要

四个线粒体ATP合酶α亚基（ATP5A）基因定位于染色体2、9、16和18上。在本研究中，我们通过荧光原位杂交（FISH）技术，将其中两个基因精确定位到中期染色体上，并进一步研究了ATP5A在视网膜母细胞瘤细胞系Y79扩增过程中的作用。对Y79细胞系进行比较基因组杂交（CGH）分析表明，2号染色体短臂和18号染色体长臂均存在基因扩增。FISH结果显示，功能性ATP5A基因定位于18q12→q21，与Y79细胞系CGH分析确定的带位置相同。一个ATP5A假基因（ATP5AP1）定位于9p12。18q12→q21染色体物质的增加可能涉及与ATP5A基因扩增拷贝的杂交，而2p24的增加则代表与MYCN和DDX1基因的杂交，这两个基因在Y79细胞系中也发生了扩增。